rs121964962

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	Carrier of a homocystinuria mutation
(G;G)	0	common in clinvar

Make rs121964962(A;A)

Reference

GRCh38 38.1/142

Chromosome

21

Position

43062988

Gene

CBS

is a	snp
is	mentioned by
dbSNP	rs121964962
dbSNP (classic)	rs121964962
ClinGen	rs121964962
ebi	rs121964962
HLI	rs121964962
Exac	rs121964962
Gnomad	rs121964962
Varsome	rs121964962
LitVar	rs121964962
Map	rs121964962
PheGenI	rs121964962
Biobank	rs121964962
1000 genomes	rs121964962
hgdp	rs121964962
ensembl	rs121964962
geneview	rs121964962
scholar	rs121964962
google	rs121964962
pharmgkb	rs121964962
gwascentral	rs121964962
openSNP	rs121964962
23andMe	rs121964962
SNPshot	rs121964962
SNPdbe	rs121964962
MSV3d	rs121964962
GWAS Ctlg	rs121964962

Max Magnitude

3

OMIM	613381
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121964962(A;A)
Alt	rs121964962(A;A)
Reference	Rs121964962(G;G)
Significance	Pathogenic
Disease	Homocystinuria HYPERHOMOCYSTEINEMIA not provided Homocystinuria due to CBS deficiency
Variation	info
Gene	CBSL CBS
CLNDBN	Homocystinuria, pyridoxine-nonresponsive HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED not provided Homocystinuria due to CBS deficiency Homocystinuria
Reversed	1
HGVS	NC_000021.8:g.44483098C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000137.3, RCV000000138.3, RCV000078112.6, RCV000173641.1, RCV000366433.1,